Links from Gene
Items: 1 to 20 of 1000
1.
rs1491525021 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 1:37492560
(GRCh38)
1:37958161
(GRCh37)
- Canonical SPDI:
- NC_000001.11:37492559:CA:
- Gene:
- MEAF6 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
- HGVS:
NC_000001.11:g.37492560_37492561del, NC_000001.10:g.37958161_37958162del, NM_022756.7:c.*1538_*1539del, NM_022756.6:c.*1538_*1539del, NM_022756.5:c.*1538_*1539del, NR_073092.3:n.2253_2254del, NR_073092.2:n.2253_2254del, NR_073092.1:n.2306_2307del, NR_073090.3:n.2222_2223del, NR_073090.2:n.2222_2223del, NR_073090.1:n.2275_2276del, NR_073091.3:n.2192_2193del, NR_073091.2:n.2192_2193del, NR_073091.1:n.2245_2246del, NM_001270875.3:c.*1538_*1539del, NM_001270875.2:c.*1538_*1539del, NM_001270875.1:c.*1538_*1539del, NM_001270876.3:c.*1208_*1209del, NM_001270876.2:c.*1208_*1209del, NM_001270876.1:c.*1208_*1209del
2.
rs1491269051 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 1:37500286
(GRCh38)
1:37965887
(GRCh37)
- Canonical SPDI:
- NC_000001.11:37500285:CT:
- Gene:
- MEAF6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.0003/1
(ALSPAC)
-=0.0013/5
(TWINSUK)
- HGVS:
3.
rs1491199691 has merged into rs201238714 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 1:37502567
(GRCh38)
1:37968168
(GRCh37)
- Canonical SPDI:
- NC_000001.11:37502565:TGT:T
- Gene:
- MEAF6 (Varview), MIR5581 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.002782/33
(
ALFA)
-=0.00138/22
(TOMMO)
-=0.004112/475
(GnomAD)
-=0.024472/44
(Korea1K)
- HGVS:
4.
rs1491084154 has merged into rs34785696 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 1:37510394
(GRCh38)
1:37975995
(GRCh37)
- Canonical SPDI:
- NC_000001.11:37510381:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:37510381:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:37510381:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:37510381:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:37510381:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:37510381:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:37510381:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:37510381:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:37510381:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:37510381:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:37510381:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:37510381:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:37510381:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:37510381:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:37510381:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:37510381:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:37510381:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:37510381:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:37510381:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:37510381:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:37510381:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- MEAF6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000001.11:g.37510394_37510403del, NC_000001.11:g.37510398_37510403del, NC_000001.11:g.37510399_37510403del, NC_000001.11:g.37510400_37510403del, NC_000001.11:g.37510401_37510403del, NC_000001.11:g.37510402_37510403del, NC_000001.11:g.37510403del, NC_000001.11:g.37510403dup, NC_000001.11:g.37510402_37510403dup, NC_000001.11:g.37510401_37510403dup, NC_000001.11:g.37510400_37510403dup, NC_000001.11:g.37510399_37510403dup, NC_000001.11:g.37510398_37510403dup, NC_000001.11:g.37510397_37510403dup, NC_000001.11:g.37510396_37510403dup, NC_000001.11:g.37510395_37510403dup, NC_000001.11:g.37510392_37510403dup, NC_000001.11:g.37510403_37510404insTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.37510403_37510404insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.37510403_37510404insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.37510403_37510404insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.37975995_37976004del, NC_000001.10:g.37975999_37976004del, NC_000001.10:g.37976000_37976004del, NC_000001.10:g.37976001_37976004del, NC_000001.10:g.37976002_37976004del, NC_000001.10:g.37976003_37976004del, NC_000001.10:g.37976004del, NC_000001.10:g.37976004dup, NC_000001.10:g.37976003_37976004dup, NC_000001.10:g.37976002_37976004dup, NC_000001.10:g.37976001_37976004dup, NC_000001.10:g.37976000_37976004dup, NC_000001.10:g.37975999_37976004dup, NC_000001.10:g.37975998_37976004dup, NC_000001.10:g.37975997_37976004dup, NC_000001.10:g.37975996_37976004dup, NC_000001.10:g.37975993_37976004dup, NC_000001.10:g.37976004_37976005insTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.37976004_37976005insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.37976004_37976005insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.37976004_37976005insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
5.
rs1491033530 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 1:37500288
(GRCh38)
1:37965889
(GRCh37)
- Canonical SPDI:
- NC_000001.11:37500286:TGT:T
- Gene:
- MEAF6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.000045/12
(TOPMED)
-=0.000917/11
(GnomAD)
-=0.002655/17
(1000Genomes)
- HGVS:
7.
rs1491029024 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 1:37510733
(GRCh38)
1:37976335
(GRCh37)
- Canonical SPDI:
- NC_000001.11:37510733::A
- Gene:
- MEAF6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
8.
rs1491005615 has merged into rs143477333 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACACACACACACACA>-,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA
[Show Flanks]
- Chromosome:
- 1:37504810
(GRCh38)
1:37970411
(GRCh37)
- Canonical SPDI:
- NC_000001.11:37504800:ACACACACACACACACACACACACACA:ACACACACA,NC_000001.11:37504800:ACACACACACACACACACACACACACA:ACACACACACACA,NC_000001.11:37504800:ACACACACACACACACACACACACACA:ACACACACACACACA,NC_000001.11:37504800:ACACACACACACACACACACACACACA:ACACACACACACACACA,NC_000001.11:37504800:ACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000001.11:37504800:ACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000001.11:37504800:ACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000001.11:37504800:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000001.11:37504800:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000001.11:37504800:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000001.11:37504800:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000001.11:37504800:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000001.11:37504800:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000001.11:37504800:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000001.11:37504800:ACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA
- Gene:
- MEAF6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACACACA=0./0
(
ALFA)
AC=0.2302/1153
(1000Genomes)
- HGVS:
NC_000001.11:g.37504802CA[4], NC_000001.11:g.37504802CA[6], NC_000001.11:g.37504802CA[7], NC_000001.11:g.37504802CA[8], NC_000001.11:g.37504802CA[9], NC_000001.11:g.37504802CA[10], NC_000001.11:g.37504802CA[11], NC_000001.11:g.37504802CA[12], NC_000001.11:g.37504802CA[14], NC_000001.11:g.37504802CA[15], NC_000001.11:g.37504802CA[16], NC_000001.11:g.37504802CA[17], NC_000001.11:g.37504802CA[18], NC_000001.11:g.37504802CA[23], NC_000001.11:g.37504802CA[24], NC_000001.10:g.37970403CA[4], NC_000001.10:g.37970403CA[6], NC_000001.10:g.37970403CA[7], NC_000001.10:g.37970403CA[8], NC_000001.10:g.37970403CA[9], NC_000001.10:g.37970403CA[10], NC_000001.10:g.37970403CA[11], NC_000001.10:g.37970403CA[12], NC_000001.10:g.37970403CA[14], NC_000001.10:g.37970403CA[15], NC_000001.10:g.37970403CA[16], NC_000001.10:g.37970403CA[17], NC_000001.10:g.37970403CA[18], NC_000001.10:g.37970403CA[23], NC_000001.10:g.37970403CA[24]
9.
rs1490813594 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 1:37514378
(GRCh38)
1:37979979
(GRCh37)
- Canonical SPDI:
- NC_000001.11:37514377:G:A,NC_000001.11:37514377:G:C
- Gene:
- MEAF6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
A=0.000009/1
(GnomAD)
C=0.002801/8
(KOREAN)
- HGVS:
10.
rs1490585735 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:37505586
(GRCh38)
1:37971187
(GRCh37)
- Canonical SPDI:
- NC_000001.11:37505585:T:C
- Gene:
- MEAF6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
11.
rs1490560325 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 1:37507453
(GRCh38)
1:37973054
(GRCh37)
- Canonical SPDI:
- NC_000001.11:37507452:T:A
- Gene:
- MEAF6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.00042/5
(
ALFA)
A=0.01027/30
(KOREAN)
- HGVS:
12.
rs1490502375 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 1:37492607
(GRCh38)
1:37958208
(GRCh37)
- Canonical SPDI:
- NC_000001.11:37492606:G:C
- Gene:
- MEAF6 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000017/2
(GnomAD)
- HGVS:
NC_000001.11:g.37492607G>C, NC_000001.10:g.37958208G>C, NM_022756.7:c.*1492C>G, NM_022756.6:c.*1492C>G, NM_022756.5:c.*1492C>G, NR_073092.3:n.2207C>G, NR_073092.2:n.2207C>G, NR_073092.1:n.2260C>G, NR_073090.3:n.2176C>G, NR_073090.2:n.2176C>G, NR_073090.1:n.2229C>G, NR_073091.3:n.2146C>G, NR_073091.2:n.2146C>G, NR_073091.1:n.2199C>G, NM_001270875.3:c.*1492C>G, NM_001270875.2:c.*1492C>G, NM_001270875.1:c.*1492C>G, NM_001270876.3:c.*1162C>G, NM_001270876.2:c.*1162C>G, NM_001270876.1:c.*1162C>G
13.
rs1490347603 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 1:37514774
(GRCh38)
1:37980375
(GRCh37)
- Canonical SPDI:
- NC_000001.11:37514773:C:A,NC_000001.11:37514773:C:G,NC_000001.11:37514773:C:T
- Gene:
- MEAF6 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.00039/11
(TOMMO)
- HGVS:
NC_000001.11:g.37514774C>A, NC_000001.11:g.37514774C>G, NC_000001.11:g.37514774C>T, NC_000001.10:g.37980375C>A, NC_000001.10:g.37980375C>G, NC_000001.10:g.37980375C>T, NM_022756.5:c.-28G>T, NM_022756.5:c.-28G>C, NM_022756.5:c.-28G>A, NR_073092.1:n.46G>T, NR_073092.1:n.46G>C, NR_073092.1:n.46G>A, NR_073090.1:n.46G>T, NR_073090.1:n.46G>C, NR_073090.1:n.46G>A, NR_073091.1:n.46G>T, NR_073091.1:n.46G>C, NR_073091.1:n.46G>A, NM_001270875.1:c.-28G>T, NM_001270875.1:c.-28G>C, NM_001270875.1:c.-28G>A, NM_001270876.1:c.-28G>T, NM_001270876.1:c.-28G>C, NM_001270876.1:c.-28G>A
14.
rs1490321004 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 1:37513978
(GRCh38)
1:37979579
(GRCh37)
- Canonical SPDI:
- NC_000001.11:37513977:A:C,NC_000001.11:37513977:A:G
- Gene:
- MEAF6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
G=0.000035/1
(TOMMO)
- HGVS:
16.
rs1490263170 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 1:37498651
(GRCh38)
1:37964252
(GRCh37)
- Canonical SPDI:
- NC_000001.11:37498650:G:A,NC_000001.11:37498650:G:T
- Gene:
- MEAF6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
17.
rs1490013855 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:37505055
(GRCh38)
1:37970656
(GRCh37)
- Canonical SPDI:
- NC_000001.11:37505054:T:C
- Gene:
- MEAF6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0./0
(GnomAD)
C=0.000004/1
(TOPMED)
- HGVS:
18.
rs1489981050 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:37507277
(GRCh38)
1:37972878
(GRCh37)
- Canonical SPDI:
- NC_000001.11:37507276:G:A
- Gene:
- MEAF6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
G=0.5/1
(SGDP_PRJ)
- HGVS:
19.
rs1489977504 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:37489530
(GRCh38)
1:37955131
(GRCh37)
- Canonical SPDI:
- NC_000001.11:37489529:G:A
- Gene:
- MEAF6 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
A=0.000342/1
(KOREAN)
- HGVS:
20.
rs1489941922 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CTT>-
[Show Flanks]
- Chromosome:
- 1:37491915
(GRCh38)
1:37957516
(GRCh37)
- Canonical SPDI:
- NC_000001.11:37491912:TTCTT:TT
- Gene:
- MEAF6 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0.000253/3
(
ALFA)
-=0.000511/66
(GnomAD)
- HGVS:
NC_000001.11:g.37491915_37491917del, NC_000001.10:g.37957516_37957518del, NM_022756.7:c.*2184_*2186del, NM_022756.6:c.*2184_*2186del, NM_022756.5:c.*2184_*2186del, NR_073092.3:n.2899_2901del, NR_073092.2:n.2899_2901del, NR_073092.1:n.2952_2954del, NR_073090.3:n.2868_2870del, NR_073090.2:n.2868_2870del, NR_073090.1:n.2921_2923del, NR_073091.3:n.2838_2840del, NR_073091.2:n.2838_2840del, NR_073091.1:n.2891_2893del, NM_001270875.3:c.*2184_*2186del, NM_001270875.2:c.*2184_*2186del, NM_001270875.1:c.*2184_*2186del, NM_001270876.3:c.*1854_*1856del, NM_001270876.2:c.*1854_*1856del, NM_001270876.1:c.*1854_*1856del